Natural History Studies

How can I get involved?

There are many ways to contribute to research through sharing your experiences. Understanding the progression of these diseases is critical to the development of a clinical trial. You can play a role by participating in natural history studies, registries and other data collection studies. If you are considering participating in a research study, you are welcome to call NTSAD to discuss the benefits and risks. Below are current ways to contribute.


A natural history study for Canavan disease sponsored by Aspa Therapeutics. To learn how you can enroll for this study, visit the posting here.

This natural history study for GM1 and GM2 (Tay-Sachs and Sandhoff) will provide a better understanding of the natural course of these diseases. Visit here for more information on how to enroll at

Patient Insights Network (PIN)

The following PINs have been set up in collaboration with Canavan Research Illinois, the Canavan Foundation and the Cure GM1 Foundation respectively. A GM2 (Tay-Sachs, Sandhoff) will be established soon as a collaboration with the Cure Tay-Sachs Foundation.

  • Canavan Patient Insights Network (PIN) – Join here.
  • GM1 Patient Insights Network (PIN) – Join here.
  • GM2 Patient Insights Network (PIN) – Join here.

PRONTO – Azafaros

A natural history study of GM1 and GM2 (Sandhoff and Tay-Sachs) – Clinical Trial #NCT05109793

Data about the progression of neurological manifestations in the late-infantile or juvenile onset forms of GM1 and GM2 is limited to single patient case reports and small case studies. Taking part in a Natural History study will help collect data in a systematic way, with measurements harmonies between the participating centers. These studies will help in the design of future studies with new future treatments in a more rigorous scientific way.

View video about the study here in either Brazilian Portgueses, French, German, Italian, English (UK), English (United States).

Need Help?

If you have questions or need more information about research to support your individual or family decisions, please email Family Services Manager Becky Benson ( or Director of Family Services Diana Jussila (formerly Pangonis) (

Funding Research

You do not have to participate in a study to be involved with research. Raising money for research is a vital way for research to continue moving forward.

Tissue Donation

If a loved one has passed away and you would like to help research progress to help others fight the disease, you may consider tissue donation. This is a private and personal decision.

We Care for Rare

Facu y Giuli
Juvenile Tay-Sachs Disease

“Facu (12) y Giuli (16) ellos aman viajar y divertirse en familia”

Alejandra Saipert, Madre